Reproductive Phenotypes of Mouse Models Illuminate Human Infertility

Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2011; 8 (6): 376-383

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Keywords: Genetik,  Infertilität,  Mausmodell,  genetics,  human syndrome,  infertility,  meiosis,  mouse model,  recombination

Infertility represents a significant health problem in industrialized nations because reproductive activity is increasingly delayed and couples face a risk of impaired fetal health at advanced maternal age (>35 years). Furthermore, approx. fifteen percent of couples have difficulties to conceive within a year of unprotected intercourse. Reduced reproductive success often relates to a defective meiotic process that would normally lead to formation of ova and sperm. The understanding of the mechanisms of meiosis and fertility has largely benefitted from knockout and transgenic mouse models that display a fertility phenotype. Using information from meiosis-deficient mice has impacted on the diagnosis of infertility of unknown origin of human patients. In this paper we discuss insights gained in the etiology of infertility by looking at murine genetic models with a reproductive phenotype due to disruptions in genes acting during meiotic prophase. We focus on genes that are important for recombinational DNA repair, meiotic chromosome structure and reproductive aging and will compare these phenotypes to human conditions with reproductive impairmen